Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities

Preferred Label : Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities;

MeSH synonym : de hauwere syndrome; iris dysplasia with ocular hypertelorism, psychomotor retardation, and sensorineural deafness;

Details

Origin ID

C566234;

UMLS CUI

C1862373;

Automatic exact mappings (from CISMeF team)
- Axenfeld-rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities [OMIM Phenotype]
- De Hauwere syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- bone and bones [MeSH Descriptor]
- eye abnormalities [MeSH Descriptor]
- facies [MeSH Descriptor]
- hearing loss, sensorineural [MeSH Descriptor]
- hydrocephalus [MeSH Descriptor]
- hypertelorism [MeSH Descriptor]
- joint instability [MeSH Descriptor]
- muscle hypotonia [MeSH Descriptor]
- oculomotor muscles [MeSH Descriptor]
Record concept(s)
- Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Axenfeld-rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

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